Individual #00215626

ID_report -
Reference -
Remarks -
Gender F
Consanguinity -
Country Germany
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases hCK
Owner name Wolfram Kress
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2011-03-03 14:16:07 +01:00 (CET)
Date last edited 2012-03-09 19:39:26 +01:00 (CET)


Phenotypes

hyperCKemia (hCK, elevated serum creatine phosphokinase) (hCK)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     
0000164078 sporting young lady hyperCKaemia, isolated hCK Unknown - - - - IHC and WB no dysferlin Wolfram Kress



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000216695 DNA SEQ - - DYSF 2 Wolfram Kress



Variants

2 entries on 1 page. Showing entries 1 - 2.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

Predict/AGVGD     

Predict/MutationTaster     

Predict/SIFT     

Predicted     

Type/DNA     

CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
2 Paternal (inferred) +/. - pathogenic (recessive) g.71742790G>A g.71515660G>A - - DYSF_000306 - - - - Germline - - - - - Wolfram Kress DYSF - - - - 7 NM_003494.3:c.701G>A - r.(?) p.(Gly234Glu) - - - - - - - - - - - - - -
2 Maternal (inferred) +/. - pathogenic (recessive) g.71742790G>A g.71515660G>A - - DYSF_000306 - - - - Germline - - - - - Wolfram Kress DYSF - - - - 7 NM_003494.3:c.701G>A - r.(?) p.(Gly234Glu) - - - - - - - - - - - - - -
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